Tyrosine Hydroxylase Deficiency

Homo sapiens

Disease Pathway

Created: 2013-08-29

Last Updated: 2018-12-21

Mutations in the Tyrosine hydroxylase (TH) gene cause TH deficiency. The TH gene provides instructions for making the enzyme tyrosine hydroxylase, which takes part in the pathway that produces a group of chemical messengers called catecholamines, namely dopamine, norepinephrine and epinephrine. Dopamine transmits signals to help the brain control physical movement and emotional behavior. Norepinephrine and epinephrine are involved in the autonomic nervous system. Mutations in the TH gene result in reduced activity of the tyrosine hydroxylase enzyme. As a result, the body produces less dopamine, norepinephrine and epinephrine. These catecholamines are necessary for normal nervous system function, and changes in their levels contribute to the abnormal movements, autonomic dysfunction, and other neurological problems seen in people with TH deficiency.

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